1st Edition - May 25, 2021
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  • Editor: Thomas Liehr
  • eBook ISBN: 9780128235805

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Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book’s second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists.

Key Features

  • Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies
  • Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease
  • Features chapter contributions from international leaders in the field


Active researchers, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing; genetic counselors; bioethicists; fertility specialists clinicians and students of life science, genetics, and medicine

Table of Contents

  • 1. A Definition for Cytogenomics – also may be called Chromosomics

    SECTION 1: Technical Aspects
    2. Overview of yet available approaches used in Cytogenomics
    3. Cytogenetics
    4. Molecular Cytogenetics
    5. Molecular Combing solutions to characterize replication kinetics and genome rearrangements
    6. Molecular Karyotyping
    7. Sequencing approaches
    8. Optical mapping and karyo-mapping
    9. Application of CRISPR/Cas9 to visualize defined genomic sequences in fixed chromosomes and nuclei
    10. Approaches for studying epigenetic aspects of the human genome

    SECTION 2: Current Cytogenomic Research
    11. Chromoanagenesis phenomena and their formation mechanisms
    12. Topologically associated domains and other gene regulatory elements
    13. Multilayer organization of chromosomes
    14. Nuclear architecture
    15. Nuclear stability in early embryo. Chromosomal aberrations
    16. Cytogenomic landscape of the human brain
    17. Interchromosomal interactions with meaning for disease
    18. Shaping of genome by long non-coding RNAs
    19. Repetitive elements, heteromorphisms and copy number variants
    20. Epigenetics

Product details

  • No. of pages: 428
  • Language: English
  • Copyright: © Academic Press 2021
  • Published: May 25, 2021
  • Imprint: Academic Press
  • eBook ISBN: 9780128235805
  • About the Editor

    Thomas Liehr

    A graduate of the Friedrich-Alexander University of Erlangen, Germany, Thomas Liehr became head of the Molecular Cytogenetic group at the Institute of Human Genetics in Jena in 1998. He is a molecular cytogeneticist with a research interest and more than 800 publications on inherited and acquired marker and derivative chromosomes, karyotype evolution, epigenetics including uniparental disomy, interphase architecture, heterochromatin, and probe set developments. In addition to being in the Editorial Board of the Journal of Histochemistry and Cytochemistry, Dr. Liehr is on the Editorial Board of 16 other journals including the European Journal of Medical Genetics (EJMG) and Oncology Letters. Also, he is the Editor of the online journal Molecular Cytogenetics and has edited seven special issues for different journals. He is a past recipient of the Research Award for Young Scientists of the Friedrich-Schiller University, Jena, invited professor and honorary doctor at Yerevan State University, Armenia, and invited professor at Belgrade Medical School, Serbia. Also, he received the Golden Medal of the Yerevan State University in 2014, Golden Medal of the Research Center for Medical Genetics in 2019, and Medal in memory of Prof. Yuri Yurov in 2019 (see also

    Affiliations and Expertise

    Professor, Friedrich-Schiller University of Jena, Germany